Treacher Collins Syndrome

Definition

Treacher Collins is a rare, inherited, congenital craniofacial condition affecting the bones, jaws, skin and muscles of the face. A syndrome is a disease or disorder that has more than one identifying feature or symptom.
Children with Treacher Collins syndrome have many facial features in common, although there is a wide variation in the severity of the condition.
Because this syndrome involves a number of different areas of the face, the treatment requires the skills and experience of a craniofacial team with a coordinated treatment plan. The other names for Treacher Collins syndrome are mandibulofacial dysostosis and Franceschetti-Zwalen-Klein syndrome.

Treacher Collins Syndrome Treatment

Treacher Collins syndrome occurs in about one of 10,000 live births. The cause of Treacher Collins syndrome is a genetic mutation that affects the baby’s facial development before birth. The affected gene is called TCOF1 and is found on chromosome 5. The mutated gene produces abnormalities in a protein called treacle.

About 60% of children with Treacher Collins syndrome have it because of spontaneous mutation, a new change in the gene, rather than inheriting it from their mother or father. Treacher Collins syndrome is an autosomal dominant condition, meaning that only one parent needs to have an abnormal gene for the child to inherit the disease. A person with Treacher Collins syndrome has a 50% chance for each pregnancy of passing the syndrome on to the child. But the severity of the syndrome can vary among members of the same family.

The severity of the symptoms associated with Treacher Collins can vary from patient to patient. The symptoms of Treacher Collins are various, but include underdeveloped bone structure in the face (notably the cheekbones) and a small chin. Patients with Treacher Collins may also have underdeveloped ears, slanted eyes, or a small notch in the lower eyelids.

The treatment of the outward symptoms of Treacher Collins are frequently addressed with cosmetic surgery. Dr. Tahiri is a pediatric craniofacial surgeon and can recommend genioplasty for the underdeveloped chin, or cheek implants to help reshape the face.